Hacking Rare Diseases with Artificial Intelligence

A new social enterprise, 123Genetix, has developed a novel systems biology platform capable of evolving complex rare disease specific computer models. These models can be individualized by rare disease researchers to: (1) develop new hypotheses; (2) design and run experimental simulations to test those hypotheses; (3) write better grants; and, (4) discover potential biomarkers.

The Unmet Need: A rare disease is generally a disease that affects a small percentage of the population. However, rare diseases are more common than you might think. There are more than 7,000 known rare diseases affecting over 300 million people worldwide. That’s almost the size of the population of the United States. In North America, rare diseases affect 8% to 10% of the population. About 80% of rare diseases have a genetic basis and 50% of rare diseases affect children. Unfortunately, less than 50% of known rare diseases have organizations to advocate on behalf of patients and their families. Compounding this ongoing problem is the ever increasing competition for limited and diminishing resources supporting rare diseases research.

An AI-Based Solution: 123Genetix has developed DeepNEU --- a highly novel deep learning computational platform that combines (1) extensive and publicly available rare diseases gene network data with (2) modified Neutrosophic Logic, and (3) features of deep artificial neural netwroks and Support Vector Machines.

The current version (v2.1) of DeepNEU continues to undergo testing and has been used to generate beta versions of several rare disease models for which the underlying genetics and clinical features are reasonably well characterized. A few examples of such well characterized diseases are Cystic Fibrosis, Duchenne Muscular Dystrophy and Sickle Cell Disease. These system biology models are easily customized and in the coming weeks we will be reaching out to key opinion leaders and rare disease researchers.

The purpose of these advanced models is to empower rare disease researchers to: (1) develop new disease hypotheses; (2) design and run experimental simulations to test those hypotheses; (3) write better grants and (4) identify potential disease specific biomarkers.  

While DeepNEU itself is not a drug discovery engine, the identification of novel biomarkers should drive future research towards new and effective therapies where none exist now.

For more information on 123Genetix and DeepNEU, visit the organization's website at www.123Genetix.com and follow @123Genetix on Twitter.